Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.

ABSTRACT: This retrospective study analyzed 306 pregnant women, with 182 undergoing genetic testing using NIPT plus and CMA, and 124 undergoing standard NIPT and CMA. The study aimed to compare the clinical performance of NIPT and NIPT plus in prenatal evaluation by using CMA as the gold standard to assess the diagnostic efficiency of the two screening methods. NIPT plus and NIPT results were correlated with ultrasound findings to evaluate their accuracy and clinical utility. The diagnostic performance of each method was compared against CMA to assess sensitivity, specificity, false positive and false negative rates, as well as positive predictive value and negative predictive value. The combined use of NIPT plus and ultrasound significantly improved the detection rate of sex chromosome aneuploidy (

SUBMITTER: Chen M 

PROVIDER: S-EPMC11997100 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature